Systematic Approach to Malalignment Type Ventricular Septal Defects.

Various congenital heart diseases are associated with malalignment of a part of the ventricular septum. Most commonly, the outlet septum is malaligned toward the right or left ventricle. Less commonly, the whole or a major part of the ventricular septum is malaligned in relation to the atrial septal plane. Although the pathological conditions associated with ventricular septal malalignment have been well recognized, the descriptions are often confusing and sometimes incorrect. In this pictorial essay, we introduce our systematic approach to the assessment of malalignment type ventricular septal defects with typical case examples. The systematic approach comprises description of the essential features of malalignment, including the following: (1) the malaligned part of the ventricular septum, (2) the reference structure, (3) the mechanism of malalignment, (4) the direction of malalignment, and (5) the severity of malalignment.

Remodeling of the Embryonic Interventricular Communication in Regard to the Description and Classification of Ventricular Septal Defects.

Ventricular septal defects are the commonest congenital cardiac malformations. Appropriate knowledge of the steps involved in completion of ventricular septation should provide clues as to the morphology of the different phenotypes. Currently, however, consensus is lacking regarding the components of the developing ventricular septum, and how best to describe the different phenotypes seen in postnatal life. We have reassessed the previous investigations devoted to closure of the embryonic interventricular communication. On this basis, we discuss how studies in the early part of the 20th century correctly identified the steps involved in the remodeling of the embryonic interventricular foramen subsequent to the stage at which the outflow tract arises entirely above the cavity of the developing right ventricle. There has, however, already been remodeling of the foramen from the stage at which the atrioventricular canal is supported exclusively by the developing left ventricle. We show how these temporal changes in morphology can provide explanations for the different ventricular septal defects seen in the clinical setting. Thus, muscular defects represent inappropriate coalescence of muscular ventricular septum. The channels that are perimembranous are due to failure of closure of the persisting embryonic interventricular foramen. Those that are doubly committed and juxta-arterial reflect failure of formation of the free-standing subpulmonary muscular infundibular sleeve. The findings also point to the importance of appropriate alignment, during development, between the developing atrial and ventricular septums, and between the apical component of the ventricular septum and the ventricular outlet components. Anat Rec, 302:19-31, 2019. © 2018 Wiley Periodicals, Inc.

Classification of Ventricular Septal Defects for the Eleventh Iteration of the International Classification of Diseases-Striving for Consensus: A Report From the International Society for Nomenclature of Paediatric and Congenital Heart Disease.

The definition and classification of ventricular septal defects have been fraught with controversy. The International Society for Nomenclature of Paediatric and Congenital Heart Disease is a group of international specialists in pediatric cardiology, cardiac surgery, cardiac morphology, and cardiac pathology that has met annually for the past 9 years in an effort to unify by consensus the divergent approaches to describe ventricular septal defects. These efforts have culminated in acceptance of the classification system by the World Health Organization into the 11th Iteration of the International Classification of Diseases. The scheme to categorize a ventricular septal defect uses both its location and the structures along its borders, thereby bridging the two most popular and disparate classification approaches and providing a common language for describing each phenotype. Although the first-order terms are based on the geographic categories of central perimembranous, inlet, trabecular muscular, and outlet defects, inlet and outlet defects are further characterized by descriptors that incorporate the borders of the defect, namely the perimembranous, muscular, and juxta-arterial types. The Society recognizes that it is equally valid to classify these defects by geography or borders, so the emphasis in this system is on the second-order terms that incorporate both geography and borders to describe each phenotype. The unified terminology should help the medical community describe with better precision all types of ventricular septal defects.

Evaluation of Ventricular Septal Defect with Special Reference to the Spontaneous Closure Rate, Subaortic Ridge, and Aortic Valve Prolapse II.

The medical records of 2283 patients with ventricular septal defect (VSD) were reviewed to determine spontaneous closure, left ventricular-to-right atrial shunt, subaortic ridge, and aortic valve prolapse. One thousand eight hundred and twenty-three patients had been followed 1 month to 26 years (median 4 years) by echocardiography. Most of 460 patients could not be followed due to transportation of the institution. VSD was perimembranous in 68.8% (1255), trabecular muscular in 21.7% (395), muscular outlet in 6% (109), muscular inlet in 2.6% (48), and doubly committed subarterial in 0.9% (16). Defect size was classified in 66.8% (1218) as small, in 15.7% (286) as moderate, and in 17.5% (319) as large. VSD closed spontaneously in 18.8% (343 of 1823 patients) by ages 40 days to 24.9 years (median, 1.8 years). One hundred fifty-seven of 1255 perimembranous defects (12.5%) and 167 of 395 trabecular muscular defects (42%) closed spontaneously (p < 0.001). Defect size became small in 306 (16.8%) of patients with VSD at a median of 2.5 years. Aneurysmal transformation was detected in 32.9% (600), left ventricular-to-right atrial shunt in 9.7% (176), subaortic ridge in 2.6% (48) of 1823 patients who were followed. In 381 (20.9%) of the 1823 patients, the VSD had been closed by a surgical or transcatheter technique. Surgery is required in one-fifth of patients with subaortic ridge or aortic valve prolapse. In conclusion, isolated VSDs are usually benign abnormalities that tend to shrink and close spontaneously.

Interventional VSD-Closure with the Nit-Occlud® Lê VSD-Coil in 110 Patients: Early and Midterm Results of the EUREVECO-Registry.

In August 2010, the Nit-Occlud® Lê (EUREVECO) became available for transcatheter coil occlusion of ventricular septal defects (VSDs). Retrospective European Registry for VSD Closure using the Nit-Occlud® Lê-VSD-Coil; analysis of the feasibility, results, safety and follow-up of VSD-closure over a 3-year period in 18 European centers. In 102 of 111 patients (female 66), successful VSD closure was performed (mean age 8.2 years, mean weight 28.82 kg), 81 perimembranous VSDs (48 with aneurysm), 30 muscular VSDs, mean procedure time was 121.1 min, and mean fluoroscopy time was 26.3 min. Short- and midterm term follow-up was possible in 100/102 patients, there was 1 embolization and 1 explantation after 24 months. Immediate complete closure occurred in 49 of 101 patients (48.5%), trivial residual shunt was present in 51 (50.0%), closure rate was 95% after 6 months and 97% after 1 year. Out of the 102 patients, there were 2 severe complications (1.8%) (1 severe hemolysis, 1 embolization) and 8 moderate/transient (=7.2%) including 1 transient AV block. During a mean follow-up period of 31.3 months (range 24-48) and a total follow-up time of 224.75 patient years, no further problems occurred. VSD closure with the Nit-Occlud® Lê VSD coil is feasible and safe with a minimal risk of severe side effects. The long-term effects and safety require further clinical follow-up studies.

Anatomy of the ventricular septal defect in outflow tract defects: similarities and differences.

OBJECTIVE: The study objective was to analyze the anatomy of the ventricular septal defect found in various phenotypes of outflow tract defects. METHODS: We reviewed 277 heart specimens with isolated outlet ventricular septal defect without subpulmonary stenosis (isolated outlet ventricular septal defect, 19); tetralogy of Fallot (71); tetralogy of Fallot with pulmonary atresia (51); common arterial trunk (54); double outlet right ventricle (65) with subaortic, doubly committed, or subpulmonary ventricular septal defect; and interrupted aortic arch type B (17). Special attention was paid to the rims of the ventricular septal defect viewed from the right ventricular side and the relationships between the tricuspid and aortic valves. RESULTS: The ventricular septal defect was always located in the outlet of the right ventricle, between the 2 limbs of the septal band. There was a fibrous continuity between the tricuspid and aortic valves in 74% of specimens with isolated outlet ventricular septal defect, 66% of specimens with tetralogy of Fallot, 39% of specimens with tetralogy of Fallot with pulmonary atresia, 4.6% of specimens with double outlet right ventricle, 1.8% of specimens with common arterial trunk, and zero of specimens with interrupted aortic arch type B (P < .005). When present, this continuity always involved the anterior tricuspid leaflet. CONCLUSIONS: The ventricular septal defect in outflow tract defects is always an outlet ventricular septal defect, cradled between the 2 limbs of the septal band. However, there are some differences regarding the posteroinferior and superior rims of the ventricular septal defect. These differences suggest an anatomic continuum from the isolated outlet ventricular septal defect to the interrupted aortic arch type B rather than distinct physiologic phenotypes, related to various degrees of abnormal rotation of the outflow tract during heart development: minimal in isolated outlet ventricular septal defect; incomplete in tetralogy of Fallot, tetralogy of Fallot with pulmonary atresia, and double outlet right ventricle; absent in common arterial trunk; and excessive in interrupted aortic arch type B.

Holes and channels between the ventricles revisited.

BACKGROUND: Although holes, or channels, between the ventricles are the commonest congenital cardiac malformations, there is still no consensus as to how they can best be described and categorised. So as to assess whether it is possible to produce a potentially universally acceptable system, we have analysed the hearts categorised as having ventricular septal defects in a large archive held at Birmingham Children's Hospital. Materials and methods We analysed all the hearts categorised as having isolated ventricular septal defects, or those associated with aortic coarctation or interruption in the setting of concordant ventriculo-arterial connections, in the archive of autopsied hearts held at Birmingham Children's Hospital, United Kingdom. RESULTS: We found 147 hearts within the archive fulfilling our criterions for inclusion. All could be classified within one of three groups depending on their borders as seen from the right ventricle. To provide full description, however, it was also necessary to take account of the way the defects opened to the right ventricle, and the presence or absence of alignment between the septal components. CONCLUSIONS: By combining information on the phenotypic specificity defined on the basis of their borders, the direction of opening into the right ventricle, and the presence or absence of septal malalignment, it proved possible to categorise all hearts examined within the archive of Birmingham Children's Hospital. Our findings have necessitated creation of new numbers within the European Paediatric Cardiac Code.

A systematic review on the efficacy and safety of transcatheter device closure of ventricular septal defects (VSD).

BACKGROUND: Advances in interventional techniques now allow for transcatheter treatment of some ventricular septal defects (VSD), although there remain concerns about adverse events. We performed a systematic review to look at outcomes and complications associated with transcatheter closure of VSD. METHOD: A PubMed search for series in English on device closure of VSD from 2003 to June 2012 was performed. We excluded small series that were included in multicenter studies and patients who had acquired VSD following myocardial infarction. The random effects model was used to obtain pooled estimates of success and complications. RESULTS: A total of 37 publications comprising 4,406 patients with VSD (perimembranous = 3,758, muscular = 419, intracristal = 47, doubly committed subarterial = 36, multiple = 16, postsurgical = 123, unclassified = 7) were included in this analysis. The age of patients ranged from 3 days to 84 years. The pooled estimate of successful device implantation was 96.6% (95% CI: 95.7-97.5). The most common complication is residual shunt (pooled estimated 25.5%; 95% CI: 18.9-32.1). Others included valvular defects (pooled estimate 4.9%; 95% CI: 3.4-6.4) and arrhythmias (pooled estimate 10.6%; 95% CI: 8.4-12.7). DISCUSSION AND CONCLUSION: Our analysis suggests that transcatheter device closure of VSD is safe and yields good results. The limitations of this study are difficulties in analyzing different devices individually, and segregating the different VSD types. Further stratification by type of VSD, age of patients, and prevention of complications is needed before this can be recommended for routine treatment.

Double outlet right ventricle versus aortic dextroposition: morphologically distinct defects.

This study concerns the morphological differentiation between double outlet right ventricle (DORV) and aortic dextroposition (AD) defects, namely tetralogy of Fallot and Eisenmenger anomaly. Indeed, despite the similar condition in terms of sequential ventriculo-arterial connections, DORV and AD are two distinct morphological entities. It is proposed that the borderline between these two groups of malformations is represented by the specific insertion of the infundibular septum into the left anterior cranial division of the septomarginal trabeculation (or septal band) occurring in ADs and lacking in DORV. Furthermore, the spiraliform versus straight parallel arrangement of the great arteries in the two groups of anomalies is emphasized as an additional and distinctive morphological feature. Emphasis is also given to the association of straight parallel great arteries conotruncal malformations, DORV and transposition of the great arteries, with the asplenia type of heterotaxy laterality defects. Within this context, the absence of subaortic ventricular septal defect and concomitantly of spiraliform great arteries in the asplenia group of heterotaxy anomalies, as detected by this study, further substantiates our belief of not mixing collectively the ADs with the DORV in clinico-pathological diagnosis.

Use of diagnostic information submitted to the United Kingdom Central Cardiac Audit Database: development of categorisation and allocation algorithms.

OBJECTIVE: To categorise records according to primary cardiac diagnosis in the United Kingdom Central Cardiac Audit Database in order to add this information to a risk adjustment model for paediatric cardiac surgery. DESIGN: Codes from the International Paediatric Congenital Cardiac Code were mapped to recognisable primary cardiac diagnosis groupings, allocated using a hierarchy and less refined diagnosis groups, based on the number of functional ventricles and presence of aortic obstruction. SETTING: A National Clinical Audit Database. Patients Children undergoing cardiac interventions: the proportions for each diagnosis scheme are presented for 13,551 first patient surgical episodes since 2004. RESULTS: In Scheme 1, the most prevalent diagnoses nationally were ventricular septal defect (13%), patent ductus arteriosus (10.4%), and tetralogy of Fallot (9.5%). In Scheme 2, the prevalence of a biventricular heart without aortic obstruction was 64.2% and with aortic obstruction was 14.1%; the prevalence of a functionally univentricular heart without aortic obstruction was 4.3% and with aortic obstruction was 4.7%; the prevalence of unknown (ambiguous) number of ventricles was 8.4%; and the prevalence of acquired heart disease only was 2.2%. Diagnostic groups added to procedural information: of the 17% of all operations classed as "not a specific procedure", 97.1% had a diagnosis identified in Scheme 1 and 97.2% in Scheme 2. CONCLUSIONS: Diagnostic information adds to surgical procedural data when the complexity of case mix is analysed in a national database. These diagnostic categorisation schemes may be used for future investigation of the frequency of conditions and evaluation of long-term outcome over a series of procedures.

Clarifying the surgical morphology of inlet ventricular septal defects.

BACKGROUND: Different types of ventricular septal defects (VSD) open to the inlet of the right ventricle. The atrioventricular conduction axis is markedly different within these subtypes, a feature of great surgical importance. To clarify these relationships, we have studied hearts with such VSDs from the Idriss archive at Ann and Robert H. Lurie Children's Hospital of Chicago. METHODS: We selected hearts from the archive showing the different variants of inlet VSD, photographing them to show the presumed disposition of the atrioventricular conduction axis as based on previous histology studies. We differentiated between perimembranous defects, muscular defects, perimembranous defects with straddling of the tricuspid valve, and atrioventricular septal defects with shunting confined at the ventricular level. RESULTS: The atrioventricular conduction axis is different in the four types of inlet VSDs. In perimembranous defects opening to the inlet of the right ventricle, the axis is positioned to the right hand of the surgeon operating through the tricuspid valve, whereas it is to the left hand with the muscular inlet defect. In patients with straddling tricuspid valve, the axis arises from an anomalous posteroinferior atrioventricular node, whereas in patients with atrioventricular septal defect with exclusive ventricular shunting, the axis arises at the crux of the heart from a node located in an inferiorly displaced nodal triangle. CONCLUSIONS: An appreciation of these relationships should help surgeons avoid the conduction system when closing inlet VSDs.

Descriptive study of nonsyndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005.

Nonsyndromic atrioventricular septal defects (AVSDs) are serious congenital heart defects for which information on prevalence and descriptive characteristics based on large, geographically, and ethnically diverse populations has been limited. To describe the birth prevalence and phenotype of nonsyndromic AVSDs, we used data from the National Birth Defects Prevention Study (NBDPS), a multisite, population-based case-control study aimed at identifying genetic and environmental risk factors for birth defects. For this analysis, infants born during the period 1997-2005 and meeting the NBDPS case definition for AVSDs were included. Infants with an AVSD associated with recognized or strongly suspected chromosomal abnormalities or single-gene disorders (syndromic case infants) were excluded. We identified 302 infants with a nonsyndromic AVSD for a birth prevalence of 0.83/10,000 livebirths. Over 20% of infants with an AVSD had an additional major birth defect, with gastrointestinal, renal or urinary, and central nervous system defects being the most common. A lower prevalence of AVSDs was seen among infants born to Hispanic mothers compared with those born to non-Hispanic White mothers [prevalence ratio = 0.63 (95% confidence interval: 0.46-0.86)]. Understanding the prevalence of nonsyndromic AVSDs, demographic factors associated with their occurrence, and associated defects could help guide clinical care, as well as contribute to a better understanding of pathogenesis.

Perventricular device closure of congenital muscular ventricular septal defects.

Muscular ventricular septal defects (MVSDs) account for approximately 20% of all congenital ventricular septal defects. Large defects in infants result in early heart failure, failure to thrive and pulmonary hypertension. Although percutaneous closure of MVSDs has been employed safely and effectively in children, adolescents and adults, its application in the small infant (weight <6 kg) carries a higher risk for complications including arrhythmias, hemodynamic compromise, cardiac perforation, tamponade and death. Perventricular closure of such defects, introduced by Amin and coworkers in the late 1990s, has become an attractive treatment modality for these small and high-risk patients. Experience worldwide has shown that the procedure is feasible, reproducible, safe and effective. In this article, the authors review the indications, the step-by-step technique and the results of perventricular closure of MVSDs using the AMPLATZER mVSD device (AGA Medical, MN, USA).

[Classification of congenital ventricular defects using echocardiography for transcatheter closure].

OBJECTIVE: To determine the anatomical variation and classification of ventricular septal defect (VSD) using echocardiography for percutaneous catheter closure in eligible cases. METHOD: The isolated ventricular septal defect was diagnosed with echocardiography in 240 patients , and 167 patients screened by transthoracic echocardiography were suitable for percutaneous catheter closure, but only 62 with isolated perimembranous VSD voluntarily received the procedure. RESULTS: The procedure was successful in 58 patients, with a success rate of 93.5% with Amplatzer device. The diameter of VSD ranged from 2.4 to 13.9 (mean 5.3-/+2.0) mm with echocardiography, and the size of Amplatzer device ranged from 4-18 (mean 8.3-/+2.9) mm. Perimembranous ventricular septal defect was complicated by aneurysm formation in 22 patients. Residual trivial or mild shunt was seen in seven (12%) patients at 24 h and one (1.7%) patient at 3 months. Seven (12.1%) patients developed heart block, 3 (5.2%) had intermittence and transient complete heart block, and one had transient second degree atrioventricular block disappearing in 3 to 10 days, and 3 (5.2%) patients had complete right bundle branch block lasting for one month. None of the patients developed significant aortic regurgitation (P>0.05), although 22 showed a superior margin of the defect less than 3 mm from the aortic valve. The mean distance from the aortic valve was 3.7-/+2.7 (1.0 to 10.5) mm. No significant mitral and tricuspid regurgitation occurred in these patients. Four patients had unsuccessful procedures. CONCLUSIONS: Percutaneous closure with Amplatzer device can be carried out successfully in a majority of suitable defects screened using transthoracic echocardiography. Echocardiography can exactly demonstrate the anatomical variation and classification of ventricular septal defect in adults. Attention should be given to the misdiagnosis by echocardiography of a doubly committed defect as a perimembranous outflow defect. Heart block can be an important complication of the procedure.

The presence of bicuspid aortic valve does not predict ventricular septal defect type.

Previous studies have identified an increased incidence of bicuspid aortic valve (BAV) in patients with ventricular septal defect (VSD). Because endocardial cushion remodeling contributes to both the formation of semilunar valves and ventricular septation, we hypothesized that examination of humans with BAV and VSD would identify a specific VSD type. We evaluated VSD type in pediatric patients diagnosed with BAV and VSD (n=82) and compared findings to patients diagnosed with VSD and normal aortic valve morphology (n=429). VSD type was described as conoventricular, muscular, inlet or conoseptal using a clinical taxonomy. Based on the contribution of the outflow tract endocardial cushions to the membranous ventricular septum, we expected patients with BAV to have conoventricular VSD. In both patient groups, conoventricular VSD was most common; however, the prevalence was not significantly different when BAV patients were compared to those with normal aortic valve morphology (67% vs. 57%, P=0.11). The primary finding of this study is that despite a developmental link between semilunar valve formation and ventricular septation during cardiogenesis, there is no clear association between BAV and VSD type. This may be due to phenotypic and genetic heterogeneity of BAV and VSD, other modifying factors as manifested by differences in associated CVM, as well as limitations of the clinical taxonomy of VSD.

Three-dimensional echocardiographic assessment of a serpiginous ventricular septal defect.

Ventricular septal defects are one of the most common congenital heart defects that either exist alone or coexist with other complex congenital heart diseases. With 3-dimensional echocardiography, exact 3-dimensional shape, size, location, and course of any ventricular septal defects can be evaluated very thoroughly. We are reporting a comprehensive assessment of a complex ventricular septal defect using 3-dimensional echocardiography and longitudinal strain analysis.

Spontaneous closure of perimembranous ventricular septal defect after school age.

BACKGROUND: The number of studies of long-term follow up to adolescence is very low on spontaneous closure (SC) of perimembranous ventricular septal defects (P-VSD) in children not undergoing surgical closure because of small left-to-right shunting. METHODS: Seventy patients with a P-VSD with pulmonary-to-systemic flow ratio (Qp/Qs) < 1.7 underwent cardiac catheterization at the age of 2-10 years (mean, 5.1 years). Excluding 22 patients who dropped out by 15 years, 48 were selected. Qp/Qs ranged from 1.00 to 1.68 (mean, 1.17). The average follow-up period of 37 patients excluding the SC patients was 17.8 years. They were classified according to Qp/Qs into three groups: group I, 1.4 or= 1.2 showed no tendency to close spontaneously. The factor most influencing SC of P-VSD after school age seemed to be the shunt ratio.